Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Silver-gray hair, Hypopigmentation of the skin, Reduced delayed h... |
OMIM:607624 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... |
OMIM:300635 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... |
OMIM:613860 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Dyschromatosis Universalis Hereditaria |
|
Hypopigmented skin patches, Spotty hypopigmentation, Freckling, Multiple cafe-au-lait spots, Hype... |
ORPHA:241 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... |
OMIM:209920 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin, Recurrent bronchopulmonary infections, Decreased circulating total IgM |
OMIM:610798 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Hypopigmentation of the skin, Onychogryposis of ... |
OMIM:617294 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Abnormal natural killer cell physiology, Increased circulat... |
OMIM:613101 |
Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Infectious encephalitis, Recurrent infections, Colitis |
OMIM:616098 |
Neuroectodermal Melanolysosomal Disease |
|
Generalized hyperpigmentation, Hypopigmentation of the skin, Recurrent respiratory infections, Hy... |
ORPHA:33445 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Decreased circulating IgA level, Reduced natural killer cell... |
OMIM:619281 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Mucoid diarrhea, Decreased circulating IgG level, Increased ... |
OMIM:615767 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus |
ORPHA:2435 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Chylomicron Retention Disease |
|
Vomiting, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL c... |
OMIM:246700 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abnormal hair morphology, Nail dystrophy, Hyperpigmentation ... |
ORPHA:46487 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Absent toenail, Ridged nail, Hyperpigmentation of the skin, Hypopigmentation ... |
ORPHA:89838 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Celiac disease, Decreased circu... |
OMIM:618969 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Hyperlipoproteinemia |
OMIM:615947 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Ulcerative colitis |
OMIM:619398 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, Nail dysplasia, Mixed hy... |
ORPHA:79397 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... |
OMIM:618394 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... |
OMIM:193510 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Sparse hair, Colitis, Brittle hair, Hepatitis, Decreased serum iron, Trichorrhex... |
OMIM:614602 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Iris hypopigmentation, Premature graying of hair |
ORPHA:79476 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Secondary Intestinal Lymphangiectasia |
|
Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... |
ORPHA:90363 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... |
ORPHA:69125 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Inflammation of the large intestine, Recurrent infections, Uveitis, Decreased circulating... |
OMIM:614700 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Secondary amenorrhea, Constipation |
OMIM:301033 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Colitis |
OMIM:617006 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Decreased HDL cholesterol concentration, Infertility, Azoospermia, Increased LDL ch... |
OMIM:615703 |
Immunodeficiency 58 |
|
Eczema, Chronic otitis media, Decreased circulating antibody level, Recurrent respiratory infecti... |
OMIM:618131 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Gastrostomy tube feeding in in... |
OMIM:618156 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Vomiting, Hypercholesterolemia, Hypoalbuminemia, Diarrhea, Prote... |
OMIM:615863 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Recurrent infections, Diarrhea, Recurrent aphthous stomatitis, Colitis, Recurren... |
OMIM:613960 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Feeding difficulties in infancy, Hypogonadotropic hypogonadism, Hypopigmentation of the skin, Iri... |
ORPHA:177910 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Decreased circulating IgG level,... |
OMIM:608809 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... |
OMIM:618108 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concentration, Blepharitis |
OMIM:616834 |
Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, White eyebrow, Generalized hypopigmentation, White eyelashes |
OMIM:103500 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Generalized reticulate brown pigmentation, Broad eyebrow, Bronchiectasis, Reticular hyperpigmenta... |
OMIM:301220 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Sepsis, Hypopigmented skin patches, Agammaglobulinemia, Recurrent cutaneous abscess fo... |
ORPHA:47 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Infect... |
ORPHA:540 |
Albinism-Deafness Syndrome |
|
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism |
OMIM:300700 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Decreased prealbumin... |
ORPHA:37042 |
Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Spotty hyperpigmentation, Mixed hy... |
ORPHA:79399 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Feeding difficulties in infancy, Villous atrophy, Reduced natural killer cell ac... |
OMIM:616050 |
Bloom Syndrome |
|
Oligospermia, Severe varicella zoster infection, Sparse eyelashes, Recurrent herpes, Decreased ci... |
ORPHA:125 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Drug-Induced Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90157 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Secondary Short Bowel Syndrome |
|
Sepsis, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abd... |
ORPHA:95427 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... |
OMIM:614878 |
Vici Syndrome |
|
Recurrent bacterial infections, Cleft palate, Ocular albinism, Recurrent fungal infections, Cutan... |
OMIM:242840 |
Phenylketonuria |
|
Blue irides, Eczema, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Generalized hypopigme... |
OMIM:261600 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, White eyelashes, Heterochromia ir... |
OMIM:277580 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin |
OMIM:618541 |
Albinism, Oculocutaneous, Type Vi |
|
Abnormal hair morphology, Generalized hypopigmentation |
OMIM:113750 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Lack of T cell function, Recurrent herpes, Recurrent protozoan infections, Decreased c... |
ORPHA:572 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hypercholesterolemia, Increased LDL cholesterol concentration, Decrease... |
OMIM:616829 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hirsutism, Generalized hypo... |
ORPHA:1816 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... |
ORPHA:2251 |
Caspase 8 Deficiency |
|
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... |
OMIM:607271 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... |
OMIM:240500 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Abnormal hair morphology, Ocular albinism, Freckling, Albini... |
OMIM:203300 |
Griscelli Syndrome |
|
Pyloric stenosis, Hypopigmented skin patches, Silver-gray hair, Abnormal circulating lipid concen... |
ORPHA:381 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... |
ORPHA:2137 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia |
ORPHA:88643 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Pneumonia, Impaired T cell function, Decreased circulating IgA le... |
OMIM:607594 |
Immunodeficiency 76 |
|
Recurrent bronchiolitis, Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Vici Syndrome |
|
Feeding difficulties in infancy, High palate, Abnormality of retinal pigmentation, Feeding diffic... |
ORPHA:1493 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Waardenburg-Shah Syndrome |
|
Abnormal intestine morphology, Aganglionic megacolon, Abnormality of retinal pigmentation, Premat... |
ORPHA:897 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
Piebald Trait |
|
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, High palate, Conjugated hyperbilirubinemia, Fair hair |
OMIM:269920 |
Alg12-Cdg |
|
Sepsis, Hyponatremia, Small nail, Recurrent ear infections, Complete or near-complete absence of ... |
ORPHA:79324 |
Syndromic Diarrhea |
|
Bloody diarrhea, Abnormality of iron homeostasis, Villous atrophy, Hypopigmentation of hair, Brit... |
ORPHA:84064 |
Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Hypercholesterolemia, Abnormality of the nail, Fine hair |
ORPHA:181393 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Partial albinism, Hyperlipidemia, Iris hypopigmentation, Hypopigmentation of... |
ORPHA:79477 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Progressive hyperpigmentation, Hyperme... |
OMIM:145250 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Elevated circulating C-reactive protein concentration, Acne, Arth... |
OMIM:604416 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Generalized reticulate brown pigmentation, Sepsis, Depigmentation/hyperpigmentation of skin, Feed... |
ORPHA:79396 |
Focal Facial Dermal Dysplasia Type I |
|
Spotty hypopigmentation, Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Spotty ... |
ORPHA:79133 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Recurren... |
OMIM:616000 |
Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin, Kerat... |
ORPHA:90342 |
Potocki-Lupski Syndrome |
|
Feeding difficulties in infancy, High palate, Hypocholesterolemia, Oral-pharyngeal dysphagia, Gas... |
OMIM:610883 |
Temple Syndrome |
|
Cleft palate, High palate, Feeding difficulties, Recurrent otitis media, Bifid uvula, Hypercholes... |
OMIM:616222 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Diar... |
OMIM:607765 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Feeding difficulties in infancy, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentatio... |
ORPHA:411515 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... |
OMIM:266600 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hirsutism, Hypercholesterolemia, Primary amenorrhea, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Thymic Aplasia |
|
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... |
ORPHA:83471 |
Classic Phenylketonuria |
|
Nausea and vomiting, Eczema, Hypopigmentation of the skin, Hyperphenylalaninemia, Hypopigmentatio... |
ORPHA:79254 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90158 |
Chylomicron Retention Disease |
|
Vomiting, Hypocholesterolemia, Abdominal distention, Steatorrhea, Diarrhea, Fat malabsorption |
ORPHA:71 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, Partial albinism, Heterochromia i... |
OMIM:148820 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Increased serum iron, Hirsutism, Increased fecal porphyrin, Hepatocellular carci... |
ORPHA:101330 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Feeding difficulties in infancy, Vomiting, Decreased circulating IgA level, Hypo... |
OMIM:212065 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Nail dystrophy, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal ste... |
OMIM:615190 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Esophageal varix, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Chédiak-Higashi Syndrome |
|
Abnormal platelet function, Recurrent infections, Periodontitis, Increased circulating ferritin c... |
ORPHA:167 |
Maternal Uniparental Disomy Of Chromosome X |
|
Hypopigmentation of the skin, Low posterior hairline, Hepatic failure, Azoospermia |
ORPHA:261519 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Feeding difficulties in infancy, Brittle hair, Sparse eyebrow |
OMIM:618810 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Fatal liver failure in i... |
ORPHA:263501 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... |
ORPHA:3437 |
Alg3-Cdg |
|
High palate, Macroglossia, Feeding difficulties, Recurrent infections, Hypopigmentation of the sk... |
ORPHA:79321 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
High palate, Generalized hypopigmentation |
OMIM:615075 |
Albinism-Deafness Syndrome |
|
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... |
ORPHA:998 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Recurrent infections, Onychomycosis, Crohn's disease, Perianal abscess, Im... |
OMIM:618935 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Spontaneous abortion, Recurrent lower respiratory tract infectio... |
ORPHA:86816 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Aganglionic megacolon, Cleft palate, Abnormal hair morphology, White ... |
ORPHA:894 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Silver-gray hair, Recurrent infections, Hypopigmentation of the skin, Periodonti... |
OMIM:214500 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, Pi... |
ORPHA:96180 |
Cyclic Neutropenia |
|
Sinusitis, Sepsis, Peritonitis, Opportunistic infection, Periodontitis, Perianal abscess, Otitis ... |
ORPHA:2686 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Feeding difficulties, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hypopigmentation of the skin |
ORPHA:261304 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
Focal Facial Dermal Dysplasia Type Iii |
|
Hypopigmented skin patches, Highly arched eyebrow, Sparse lateral eyebrow, Abnormal hair pattern,... |
ORPHA:1807 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Ocular albinism, Aberrant melanosome maturation, Reduced natural ... |
OMIM:608233 |
Ataxia-Telangiectasia |
|
Decreased circulating antibody level, Multiple cafe-au-lait spots, Recurrent respiratory infectio... |
ORPHA:100 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pustule, Lack of T cell function, Recurrent op... |
ORPHA:35078 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Hypernatremia, Hepatitis, Recurrent infections, Gastritis, Crohn's disease, Decre... |
OMIM:619381 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Esophageal varix, Impaired T cell function, Elevated circula... |
OMIM:614576 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Feeding difficulties, High palate, Recurrent otitis media, Hypercholesterolemia |
ORPHA:254531 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Shigellosis |
|
Myocarditis, Sepsis, Tenesmus, Uveitis, Abdominal pain, Abnormal blood ion concentration, Conjunc... |
ORPHA:810 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... |
ORPHA:79434 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Eczema, Alopecia, Irregular hyperpigmentation, Skin rash, Abnormality... |
ORPHA:2584 |
Sweet Syndrome |
|
Inflammation of the large intestine, Increased circulating interleukin 6, Predominantly dermal ne... |
ORPHA:3243 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... |
ORPHA:352731 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin |
OMIM:616459 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Hypopigmentation of the skin, Abnormality of hair texture |
OMIM:601957 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... |
ORPHA:2442 |
Papillon-Lefèvre Syndrome |
|
Hypopigmented skin patches, Pustule, Hypertrichosis, Chronic furunculosis, Recurrent cutaneous ab... |
ORPHA:678 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Severe varicella zoster infection, Defective T cell proliferation, Increased cir... |
OMIM:618213 |
Menkes Disease |
|
Sparse hair, Hypopigmentation of the skin |
OMIM:309400 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Dysphagia, Feeding difficulties, Hypopigmentation of the skin, Poor suck, Iris hypopigmentation, ... |
ORPHA:98795 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Pigmentary retinopathy, Pancreatitis, Hypertriglyceridemia |
OMIM:606721 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Generalized reticulate brown pigmentation, Onycholysis, Dystrophic toenail, Subungual hyperkerato... |
ORPHA:69087 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Myocarditis, Septic arthritis, Intussusception, Diarrhea, Abdominal pain, Abnormal... |
ORPHA:544482 |
Bloom Syndrome |
|
Spotty hypopigmentation, Hypertrichosis, Azoospermia, Decreased circulating IgA level, Bronchiect... |
OMIM:210900 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... |
OMIM:616828 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypopigmented skin patches, Increased circulating cortisol level, Alopecia, Chronic mucocutaneous... |
ORPHA:3453 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Kaufman Oculocerebrofacial Syndrome |
|
Feeding difficulties in infancy, High palate, Hypocholesterolemia, Recurrent infections, Intestin... |
OMIM:244450 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6, Elevated circulating C-reactive protein concentration, Vomit... |
ORPHA:90051 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... |
ORPHA:158681 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Decreased ci... |
OMIM:308230 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
High, narrow palate, High palate, Generalized hypopigmentation |
OMIM:257790 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... |
OMIM:600903 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Aganglionic megacolon, Abnormality of skin pigmentation, Abnormal eye... |
ORPHA:3440 |
Immunodeficiency 92 |
|
Cholangitis, BCGosis, Pneumonia, Decreased circulating IgA level, Recurrent oral herpes, Decrease... |
OMIM:619652 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections, Menorrhagia, Inflammation of the large intestine, Hepatocellular ... |
ORPHA:79259 |
Porphyria Variegata |
|
Hyponatremia, Hypertrichosis, Hepatocellular carcinoma, Nausea, Hyperpigmentation of the skin, Hy... |
ORPHA:79473 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypopigmented skin patches, Celiac disease, Alopecia, Hypogonadism, Hashimoto thyroiditis |
ORPHA:3143 |
Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Nausea and vomiting, Dysphagia, Abnormality of skin pigmentation, Gas... |
ORPHA:220402 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Angelman Syndrome Due To A Point Mutation |
|
Dysphagia, Feeding difficulties, Hypopigmentation of the skin, Poor suck, Iris hypopigmentation, ... |
ORPHA:411511 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... |
ORPHA:411696 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Eczema, Inflammation of the large intestine, Recurrent herpes, Increased circulating IgA ... |
OMIM:301000 |
Congenital Generalized Lipodystrophy |
|
Oligomenorrhea, Hypertrichosis, Amenorrhea, Low anterior hairline, Macroglossia, Hypercholesterol... |
ORPHA:528 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Hypopigmented skin patches, Eczema, Allergic rhinitis, Erythroderma... |
ORPHA:330064 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... |
ORPHA:26790 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Sea-Blue Histiocytosis |
|
Hyperpigmentation of the skin, Blepharitis, Hypopigmentation of the skin |
ORPHA:158029 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Sinusitis, Hypouricemia, Recurrent opportunistic infections, Pneu... |
OMIM:613179 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hyperhomocystinemia, High palate, Brittle hair, Pancreatitis, Hypopigmentation of the skin, Hyper... |
OMIM:236200 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Abnormality of retinal pigmentation, Decreased HDL cholesterol concen... |
ORPHA:14 |
Prader-Willi Syndrome |
|
Feeding difficulties in infancy, Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism, Hypo... |
OMIM:176270 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches, Achalasia |
ORPHA:3239 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, High palate, Cleft palate, Feeding difficulties, Recurrent otitis media, Bifid ... |
ORPHA:96184 |
Hermansky-Pudlak Syndrome |
|
Anorexia, Partial albinism, Ocular albinism, Long eyelashes, Menometrorrhagia, Malabsorption, Mel... |
ORPHA:79430 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Macroglossia, Abnormal eyebrow morphology, Chronic diarrhea, Poor appetite, Glossitis,... |
ORPHA:2221 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Abnormal intestine morphology, Onycholysis, Alopecia, Hepatitis, Abno... |
ORPHA:525 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Oligomenorrhea, Vomiting, Hepatocellular carcinoma, Nausea, Elevated circulating cr... |
ORPHA:79240 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Infertility, Nasogastric tube feeding, Xerostomia, Hypogonadotropic hypogonadism, Hypopigmentatio... |
ORPHA:398079 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Red hair |
OMIM:609734 |
Mandibuloacral Dysplasia |
|
High palate, Abnormality of skin pigmentation, Alopecia, Increased circulating free fatty acid le... |
ORPHA:2457 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Dysphagia, Feeding difficulties, Hypopigmentation of the skin, Poor suck, Iris hypopigmentation, ... |
ORPHA:98794 |
Rothmund-Thomson Syndrome |
|
Infertility, Calcinosis, Sparse eyelashes, Vomiting, Sparse hair, Small nail, Nasogastric tube fe... |
ORPHA:2909 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Abnormal intestine morphology, Infectious encephali... |
ORPHA:391487 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... |
ORPHA:324964 |
Morgagni-Stewart-Morel Syndrome |
|
Hirsutism, Acne, Hyperuricemia, Hypercholesterolemia, Osteoarthritis |
ORPHA:77296 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Intestinal polyp, Lactose intolerance, Hypopigmented skin patches, Decreased circulating IgA leve... |
ORPHA:457485 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Autoimmune Lymphoproliferative Syndrome |
|
Recurrent aphthous stomatitis, Hepatitis, Gastritis, Uveitis, Abnormal serum interleukin level, D... |
ORPHA:3261 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Infertility, Nasogastric tube feeding, Xerostomia, Feeding difficulties, Hypopigmentation of the ... |
ORPHA:398069 |
Zygomycosis |
|
Brain abscess, Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis... |
ORPHA:73263 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Angelman Syndrome |
|
Dysphagia, Vomiting, Nasogastric tube feeding, Feeding difficulties, Gastrostomy tube feeding in ... |
ORPHA:72 |
Dowling-Degos Disease |
|
Progressive reticulate hyperpigmentation, Acne inversa, Arthritis, Anal margin squamous cell carc... |
ORPHA:79145 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Esophageal varix, Oligomenorrhea, Vomiting, Nausea, Elevated circulating creatine k... |
ORPHA:264580 |
Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Blue irides, Aganglionic megacolon, White eyelashes, Hypogonadism, He... |
OMIM:613266 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches |
ORPHA:1825 |
Angelman Syndrome |
|
Blue irides, Feeding difficulties in infancy, Macroglossia, Hypopigmentation of the skin, Fair ha... |
OMIM:105830 |
Galactokinase Deficiency |
|
Hypergalactosemia, Feeding difficulties, Hypercholesterolemia, Premature ovarian insufficiency, H... |
ORPHA:79237 |
Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Nasogastric tube feeding, Feeding difficulties, Hypopi... |
ORPHA:356961 |
Prader-Willi Syndrome |
|
Infertility, Vomiting, Xerostomia, Nasogastric tube feeding in infancy, Gastroparesis, Hypopigmen... |
ORPHA:739 |
Hereditary Bullous Dystrophy, Macular Type |
|
Spotty hypopigmentation, Pneumonia, Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Atri... |
ORPHA:1867 |
Lichen Planus Pemphigoides |
|
Abnormality of the nail, Blepharitis, Hypopigmented streaks, Conjunctivitis |
ORPHA:254478 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Gastrointestinal hemorrh... |
ORPHA:247598 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... |
ORPHA:67 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatocellular carcinoma, Vomiting, Hyp... |
ORPHA:247585 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Necrotizing enterocolitis, De... |
OMIM:201475 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Cleft palate, Villous ... |
OMIM:619573 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Bloody diarrhea, Rectal prolapse, Unconjugated hyperbilirubinemia, Vomiting, Perito... |
ORPHA:90038 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Hypercholesterolemia, Hypertriglyceridemia, Constipation, Synophrys |
OMIM:182290 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Recurrent viral infections, Colonic eosinophilia, Eosi... |
OMIM:618999 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... |
ORPHA:98754 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... |
ORPHA:98793 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in respon... |
OMIM:600802 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating copper con... |
OMIM:300972 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Sparse hair, Vomiting, Nasogastric tube feeding, Functional abnormality of the gastro... |
ORPHA:221008 |
Thymoma |
|
Abnormal lymphocyte proliferation, Neoplasm of the gastrointestinal tract, Myositis, Decreased ci... |
ORPHA:99867 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... |
ORPHA:177904 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Dysphagia, Gastrostomy tube feeding in infancy, Decreased liver function, Hypopigmentation of hai... |
ORPHA:70472 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Vomiting, Nausea, Eleva... |
ORPHA:542323 |
Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Increased fecal porphyrin, Hyperpigmentation of the skin, Facial hypertr... |
ORPHA:95159 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... |
ORPHA:177901 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... |
ORPHA:555905 |
Hartnup Disease |
|
Hypopigmented skin patches, Infectious encephalitis, Malabsorption, Irregular hyperpigmentation, ... |
ORPHA:2116 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Peritonitis, Abnormal circulating lipid concentration, Hyperch... |
ORPHA:567548 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:601220 |
Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, Eczema, Cleft palate, Aganglionic megacolon, Vomiting, Elevated 7-dehydrocholes... |
OMIM:270400 |
Muenke Syndrome |
|
Hypopigmented skin patches, High, narrow palate, Hypopigmentation of hair, Hypermelanotic macule |
ORPHA:53271 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, High, narrow palate, Freckling, Hyperpigmentation of the skin, Iris h... |
ORPHA:3214 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
Laron Syndrome |
|
Hypercholesterolemia, Osteoarthritis |
ORPHA:633 |
Tangier Disease |
|
Hypocholesterolemia, Nail dystrophy, Abdominal pain, Hypertriglyceridemia |
ORPHA:31150 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Esophageal varix, Oligomenorrhea, Vomiting, Hepatocellular carcinoma, Elevated circ... |
ORPHA:370 |
Prader-Willi-Like Syndrome |
|
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... |
ORPHA:398073 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Degcags Syndrome |
|
Pyloric stenosis, Recurrent infections, Oral-pharyngeal dysphagia, Low posterior hairline, Intest... |
OMIM:619488 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Increased ci... |
ORPHA:562639 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Vomiting, Nausea, Pancreatitis, Lactescent serum, Episodic abdominal pain, Hyperc... |
OMIM:238600 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... |
ORPHA:793 |
Carney Complex, Type 1 |
|
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Esophageal varix, Vomiting, Increased LDL cholesterol co... |
OMIM:278000 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Seborrhoeic blepharitis, Unconjugated hyperbilirubinemia, Increased fe... |
ORPHA:79277 |
Kindler Epidermolysis Bullosa |
|
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Abnormality o... |
ORPHA:2908 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin, Alopecia, Hypophosphatemic rickets |
OMIM:163200 |
Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Dystrophic fingernails, Arthritis, Os... |
ORPHA:29207 |
Dyskeratosis Congenita |
|
Periodontitis, Aplastic/hypoplastic toenail, Abnormal fingernail morphology, Recurrent respirator... |
ORPHA:1775 |
Scleroderma |
|
Myocarditis, Fasciitis, Abnormal stomach morphology, Uveitis, Intestinal bleeding, Barrett esopha... |
ORPHA:801 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... |
OMIM:207750 |
Nephrotic Syndrome, Type 11 |
|
High palate, Cleft palate, Minimal change glomerulonephritis, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Hypomelanosis Of Ito |
|
Alopecia, Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
Sitosterolemia 1 |
|
Impaired platelet aggregation, Elevated circulating sitosterol concentration, Arthritis, Hypercho... |
OMIM:210250 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Prader-Willi Syndrome Due To Translocation |
|
Feeding difficulties in infancy, Cleft palate, High palate, Stellate iris, Hypogonadotropic hypog... |
ORPHA:177907 |
Rothmund-Thomson Syndrome Type 2 |
|
High palate, Cleft palate, Calcinosis, Vomiting, Nasogastric tube feeding, Functional abnormality... |
ORPHA:221016 |
Crouzon Disease |
|
Hypopigmented skin patches, Narrow palate, Melanocytic nevus, Conjunctivitis |
ORPHA:207 |
Epidermodysplasia Verruciformis |
|
Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Recurrent skin infections, Multiple c... |
ORPHA:302 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Decreased circulating antibody level, Hyperglycinemia, Hyperammonem... |
ORPHA:470 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Aganglionic megacolon, Premature graying of hair, Abnormal eyebrow mo... |
ORPHA:163746 |
Localized Scleroderma |
|
Hypopigmented skin patches, Abnormality of skin adnexa morphology, Fasciitis, Esophagitis, Hyperp... |
ORPHA:90289 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Highly arched eyebrow, Thick hair |
ORPHA:401923 |
Cystinosis, Nephropathic |
|
Hyponatremia, Dysphagia, Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigme... |
OMIM:219800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Spotty hypopigmentation, Hirsutism, Nail dystrophy, Abnormal hair whorl, Low posterior hairline, ... |
OMIM:300860 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Systemic Sclerosis |
|
Myocarditis, Gastroparesis, Abnormal stomach morphology, Intestinal bleeding, Barrett esophagus, ... |
ORPHA:90291 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Nausea and vomiting, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Hypopigment... |
ORPHA:183 |
Gapo Syndrome |
|
Oligospermia, Hypopigmented skin patches, Sparse eyelashes, Dysmenorrhea, Amenorrhea, Early baldi... |
ORPHA:2067 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Fine hair, Aganglionic megacolon, Agammaglobulinemia, White hair, Malabsorption, Recurrent respir... |
ORPHA:935 |
Phakomatosis Pigmentovascularis |
|
Hypopigmented skin patches, Generalized hyperpigmentation |
ORPHA:2875 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
High palate, Ocular albinism, White hair, Iris hypopigmentation, Generalized hypopigmentation |
ORPHA:2720 |
Large Congenital Melanocytic Nevus |
|
Hypopigmented skin patches, Congenital giant melanocytic nevus, Generalized hirsutism, Abnormalit... |
ORPHA:626 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenocarcinoma of the small intestine, Adenomatous colonic polyposis, Hypopigmentation of the ski... |
OMIM:276300 |
Waardenburg Syndrome, Type 1 |
|
Blue irides, Partial albinism, White eyelashes, Heterochromia iridis, White forelock, Thick eyebr... |
OMIM:193500 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Abnormal platelet function, Chron... |
ORPHA:906 |
Waardenburg Syndrome, Type 2E |
|
Blue irides, Hypopigmented skin patches, Ocular albinism, White eyelashes, Heterochromia iridis, ... |
OMIM:611584 |
Smith-Magenis Syndrome |
|
Feeding difficulties in infancy, Cleft palate, Chronic otitis media, Hypercholesterolemia, Hypert... |
ORPHA:819 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Fair hair, Red hair |
OMIM:614613 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dysphagia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevated alp... |
ORPHA:64753 |
Galloway-Mowat Syndrome 7 |
|
Eczema, High palate, Cleft palate, Minimal change glomerulonephritis, Hypercholesterolemia |
OMIM:618348 |
Buschke-Ollendorff Syndrome |
|
Arthritis, Generalized hypopigmentation |
ORPHA:1306 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Blue irides, Absence of Stensen duct, Cleft palate, Sparse eyelashes, Hypoplastic nipples, Sparse... |
OMIM:129900 |
Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Hyperpigmentation of the skin, Alopecia, Absent eyebrow, Hypopigmentation of the ... |
OMIM:263700 |
Megalocornea-Mental Retardation Syndrome |
|
Dysphagia, High palate, Low anterior hairline, Bifid uvula, Hypercholesterolemia |
OMIM:249310 |
Chromomycosis |
|
Recurrent bacterial infections, Hypopigmented skin patches, Keratoconjunctivitis sicca, Keratitis |
ORPHA:182 |
Acrofrontofacionasal Dysostosis |
|
Hypopigmented skin patches, High palate, Cleft palate, Brushfield spots, Aplasia/Hypoplasia of th... |
ORPHA:1784 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Pancreatitis, Neoplasm of the liver, Hypercholesterolemia,... |
ORPHA:69663 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Esophageal varix, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia... |
OMIM:619662 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Keratoconjunctivitis sicca, Eczema, Xerostomia, Breast aplasia, Generalized hypopigmen... |
ORPHA:238468 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... |
ORPHA:309031 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... |
ORPHA:171 |
Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Vomiting, Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the ski... |
ORPHA:79456 |
Xeroderma Pigmentosum, Complementation Group C |
|
Conjunctivitis, Hypopigmentation of the skin, Keratitis |
OMIM:278720 |
Incontinentia Pigmenti |
|
Hypopigmented skin patches, Broad nail, Infectious encephalitis, Abnormal hair morphology, Dystro... |
ORPHA:464 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Hy... |
ORPHA:99413 |
Turner Syndrome |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Hy... |
ORPHA:881 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Hy... |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Hy... |
ORPHA:99226 |
Galloway-Mowat Syndrome 1 |
|
High palate, Small nail, Feeding difficulties, Hypopigmentation of the skin, Hiatus hernia, Hypoa... |
OMIM:251300 |
Congenital Factor Xiii Deficiency |
|
Recurrent spontaneous abortion, Menorrhagia, Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Sepsis, Trichiasis, Abdominal distention, Hyperpigmentation of the skin, Oral-pharyngeal dysphagi... |
ORPHA:95455 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypopigmented skin patches, Hypogonadotropic hypogonadism, Aplastic/hypoplastic toenail, Synophrys |
ORPHA:1295 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Recurrent infections |
OMIM:617718 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypercholesterolemia, Hypertriglyceridemia, Alopecia universali... |
ORPHA:363618 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hyperchol... |
ORPHA:412 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hepatitis, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Rare Cutaneous Lupus Erythematosus |
|
Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam... |
ORPHA:535 |
Cocaine Intoxication |
|
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, El... |
ORPHA:90068 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cleft palate, Synophrys, Recurrent otitis media, Hypopigmentation of the skin, Cholecystitis, Chr... |
OMIM:301066 |
Curry-Jones Syndrome |
|
Hypopigmented skin patches, Generalized hirsutism, Intestinal malrotation |
ORPHA:1553 |
Mosaic Trisomy 8 |
|
Hypopigmented skin patches, High palate, Cleft palate, Hypopigmentation of the skin |
ORPHA:96061 |
Plague |
|
Sepsis, Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, ... |
ORPHA:707 |
Oculocerebrorenal Syndrome Of Lowe |
|
Fine hair, Hyponatremia, Feeding difficulties in infancy, Hypokalemia, Azoospermia, Chronic otiti... |
ORPHA:534 |
Infantile Krabbe Disease |
|
Hypopigmented skin patches, Vomiting, Feeding difficulties, Nasogastric tube feeding in infancy, ... |
ORPHA:206436 |
Epidermal Nevus Syndrome |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:35125 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Recurrent ear infections, Neonatal hyperbilirubinemia, Recurrent cutaneous... |
ORPHA:163956 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... |
ORPHA:3260 |
Eec Syndrome |
|
Fine hair, Cleft palate, Xerostomia, Nail dystrophy, Coarse hair, Keratitis, Inflammatory abnorma... |
ORPHA:1896 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Eczema, Feeding difficulties, Nasogastric tube feeding in infancy, Recurrent otitis media, Alopec... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Eczema, Feeding difficulties, Nasogastric tube feeding in infancy, Recurrent otitis media, Alopec... |
ORPHA:363958 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hyperpigmentation, Nail dystrophy, Bone marrow hypocellularity, Generalized hypopigme... |
ORPHA:3322 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Anorexia, Melanocytic nevus, Short hard palate, Multiple caf... |
ORPHA:1969 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the eye... |
ORPHA:2637 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Blue irides, Absence of Stensen duct, Cleft palate, Sparse eyelashes, Hypoplastic nipples, Sparse... |
OMIM:604292 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Broad eyebrow, High palate, Vomiting, Recurrent ear infections, Abnormality ... |
OMIM:619475 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Nail dystrophy, Small nail, Hypertriglyceridemia |
OMIM:610644 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, Long-segment a... |
OMIM:609136 |
Ruvalcaba Syndrome |
|
Hypopigmented skin patches, Generalized hirsutism |
ORPHA:3121 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Vomiting, Nausea |
ORPHA:90065 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypopigmented skin patches on arms, Pneumonia, Recurrent otitis media, Vitiligo, Rheumatoid arthr... |
OMIM:607944 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Nausea and vomiting, Hyponatremia, Esophageal varix, Vomiting, Feeding difficulties... |
ORPHA:275761 |
Oculocerebrocutaneous Syndrome |
|
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia |
ORPHA:1647 |
Short Stature With Microcephaly And Distinctive Facies |
|
Spotty hyperpigmentation, Spotty hypopigmentation, Recurrent infections, Sparse and thin eyebrow |
OMIM:615789 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, High palate |
ORPHA:2479 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hirsutism, Hypercholesterolemia, Acute pancreatitis, Hyp... |
OMIM:151660 |
Koolen-De Vries Syndrome |
|
Pyloric stenosis, High, narrow palate, Feeding difficulties in infancy, Cleft palate, Abnormality... |
ORPHA:96169 |
Frontometaphyseal Dysplasia 2 |
|
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Hirsutism, Low ante... |
OMIM:617137 |
Harrod Syndrome |
|
Hypopigmented skin patches, High palate |
ORPHA:2115 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Alopecia, Hypoplasia of the ovary, Intestinal malrotation, Azotemia, Generaliz... |
OMIM:619321 |
Fanconi Anemia |
|
Hypopigmented skin patches, Cleft palate, Aganglionic megacolon, High palate, Duodenal stenosis, ... |
ORPHA:84 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Bronchiectasis... |
OMIM:181000 |
Hereditary Acrokeratotic Poikiloderma |
|
Hypopigmented skin patches, Eczema, Pustule, Dystrophic fingernails, Dystrophic toenail, Xerostom... |
ORPHA:2907 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Feeding difficulties in infancy, Neonatal hyperbilirubinemia, Macroglossia, Abnormal circulating ... |
ORPHA:90674 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches, Malar rash |
ORPHA:79480 |
Menkes Disease |
|
Sepsis, Feeding difficulties in infancy, Nausea and vomiting, Sparse hair, Malabsorption, Osteomy... |
ORPHA:565 |
Duane Retraction Syndrome |
|
Hypopigmented skin patches, Patchy hypopigmentation of hair, Cleft palate, Central heterochromia,... |
ORPHA:233 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Pitt-Hopkins Syndrome |
|
Hypopigmented skin patches, Aganglionic megacolon, Feeding difficulties, Esophagitis, Hiatus hern... |
ORPHA:2896 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Male hypogonadism, Pancreatitis |
OMIM:619471 |
Gaisböck Syndrome |
|
Hyperproteinemia, Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Cholecystitis,... |
ORPHA:90041 |
Xeroderma Pigmentosum |
|
Hypopigmented skin patches, Freckling, Alopecia, Melanocytic nevus, Hypogonadism, Keratitis, Blep... |
ORPHA:910 |
Sarcoidosis |
|
Keratoconjunctivitis sicca, Hypercalcemia, Tubulointerstitial nephritis, Bronchiectasis, Hyperpig... |
ORPHA:797 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Hypopigmented skin patches, Abnormality of retinal pigmentation |
ORPHA:2715 |
Atypical Werner Syndrome |
|
Secondary amenorrhea, Abnormality of retinal pigmentation, Abnormal hair morphology, Alopecia, Ne... |
ORPHA:79474 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Feeding difficulties in infancy, Intestinal pseudo-obstruction, Early balding... |
ORPHA:273 |
22Q11.2 Deletion Syndrome |
|
Hypopigmented skin patches, Feeding difficulties in infancy, Aganglionic megacolon, Cleft palate,... |
ORPHA:567 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Increased HDL cholesterol concentration, Inflammation of the large intestine, Elevated circulatin... |
ORPHA:70591 |
Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, Feeding difficulties in infancy, Aganglionic megacolon, Cleft palate, Elevated ... |
ORPHA:818 |
Brittle Cornea Syndrome |
|
Cleft palate, Abnormality of hair pigmentation |
ORPHA:90354 |
Mowat-Wilson Syndrome |
|
Pyloric stenosis, Broad eyebrow, Dysphagia, Cleft palate, Oligomenorrhea, Aganglionic megacolon, ... |
ORPHA:2152 |
Mosaic Trisomy 20 |
|
Cleft palate, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin, Chronic constipation |
ORPHA:1724 |
Kindler Syndrome |
|
Dysphagia, Spotty hypopigmentation, Ridged nail, Periodontitis, Spotty hyperpigmentation, Esophag... |
OMIM:173650 |
Neurofibromatosis Type 1 |
|
Hypopigmented skin patches, Abnormality of retinal pigmentation, Generalized hyperpigmentation, N... |
ORPHA:636 |
Familial Tumoral Calcinosis |
|
Hypopigmented skin patches, Skin rash |
ORPHA:53715 |
Acrodysostosis With Multiple Hormone Resistance |
|
Blue irides, Hypogonadism, Hypocalcemia, Hyperphosphatemia, Fair hair, Red hair |
ORPHA:280651 |
Sotos Syndrome |
|
Hypercalcemia, Aganglionic megacolon, Small nail, Chronic otitis media, Feeding difficulties, Hyp... |
ORPHA:821 |
Cowden Syndrome |
|
Colorectal polyposis, Hypopigmented skin patches, High palate, Macroglossia, Furrowed tongue, Mel... |
ORPHA:201 |
Mend Syndrome |
|
Spotty hypopigmentation, High palate, Cleft palate, Elevated 8(9)-cholestenol, Elevated 8-dehydro... |
ORPHA:401973 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormality of skin pigmentation... |
ORPHA:2556 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
High palate, Dry hair, Hypopigmentation of hair, Coarse hair, Widow's peak |
ORPHA:1974 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism |
ORPHA:2719 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failure, Pigmentary... |
OMIM:118450 |
Pallister-Killian Syndrome |
|
Cleft palate, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Supernumerary nipple, Spars... |
OMIM:601803 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Sparse scalp hair, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko li... |
OMIM:210720 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, High palate, Cleft palate, Sparse eyebrow, Patchy hypo- and hyperpigmentation... |
ORPHA:3063 |
Tetragametic Chimerism |
|
Hypopigmented skin patches |
ORPHA:199310 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Elevated amniotic fluid alpha-fe... |
OMIM:309000 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Esophageal varix, Abdominal distention, Elevated circulating creatinine concentration, Hyperbilir... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
|
OMIM:618392 |